Functional characterization of four ATP‐binding cassette transporter A3 gene (ABCA3) variants
Abstract
ABCA3 transports phospholipids across lamellar body membranes in pulmonary alveolar type II cells and is required for surfactant assembly. Rare, biallelic, pathogenic ABCA3 variants result in lethal neonatal respiratory distress syndrome and childhood interstitial lung disease. Qualitative functional characterization of ABCA3 missense variants suggests two pathogenic classes: disrupted intracellular trafficking (type I mutant) or impaired...
Paper Details
Title
Functional characterization of four ATP‐binding cassette transporter A3 gene (ABCA3) variants
Published Date
Apr 1, 2020
Journal
Volume
41
Issue
7
Pages
1298 - 1307
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